Brain arteriovenous malformations (bAVM) are an important cause of intracranial hemorrhage (ICH), especially in younger patients. The pathogenesis of bAVM are largely unknown. Current understanding of bAVM etiology is based on studying genetic syndromes, animal models, and surgically resected specimens from patients. The identification of activating somatic mutations in the Kirsten rat sarcoma viral oncogene homologue (KRAS) gene and other mitogen-activated protein kinase (MAPK) pathway genes has opened up new avenues for bAVM study, leading to a paradigm shift to search for somatic, de novo mutations in sporadic bAVMs instead of focusing on inherited genetic mutations. Through the development of new models and understanding of pathways involved in maintaining normal vascular structure and functions, promising therapeutic targets have been identified and safety and efficacy studies are underway in animal models and in patients. The goal of this paper is to provide a thorough review or current diagnostic and treatment tools, known genes and key pathways involved in bAVM pathogenesis to summarize current treatment options and potential therapeutic targets uncovered by recent discoveries.

脑动静脉畸形（bAVM）是颅内出血（ICH）的重要原因，尤其是年轻患者。bAVM 的发病机制尚不清楚。目前对 bAVM 病因学的了解基于对遗传综合征、动物模型和患者手术切除标本的研究。Kirsten 大鼠肉瘤病毒癌基因同源物(KRAS)基因和其他丝裂原激活蛋白激酶 ( MAPK ) 通路基因中激活体细胞突变的鉴定为 bAVM 研究开辟了新途径，导致了寻找体细胞、de散发性 bAVM 发生新突变，而不是关注遗传性基因突变。通过开发新模型和了解维持正常血管结构和功能所涉及的途径，已经确定了有希望的治疗靶点，并且正在动物模型和患者中进行安全性和有效性研究。本文的目的是对当前的诊断和治疗工具、已知基因和参与 bAVM 发病机制的关键途径进行全面回顾，以总结当前的治疗方案和最近发现的潜在治疗靶点。